Abstract
Background: Chromosomal aberrations are frequent in human embryos and can be identified during IVF by performing preimplantation genetic testing for aneuploidies (PGT-A). Therefore, this study presents a case report highlighting the application of embryonic cell-free DNA isolated from spent culture medium for preimplantation aneuploidy screening. Case presentation: This case report elucidates the potential use of non-invasive preimplantation genetic testing for aneuploidy (PGT-A) as a valuable resource for couples facing infertility challenges. By using PGT-A, these couples can assess the genetic health of embryos before implantation, thereby increasing the chances of a successful pregnancy through assisted reproductive technologies. Conclusions: PGT-A, an innovative technique using embryonic cell-free DNA isolated from a spent culture medium, offers a non-invasive and effective method for assessing chromosomal aberrations in embryos. It has the potential to enhance preimplantation genetic testing and support medically personalized embryo selection.
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Khudari, L., Halabi, M., & Al Fahoum, S. (2025). Preimplantation aneuploidy screening using embryonic cell-free DNA isolated from spent culture medium: a case report. Egyptian Journal of Medical Human Genetics, 26(1). https://doi.org/10.1186/s43042-025-00654-2
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